Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851258G>T , CM000668.2:g.131851258G>T | GRCh38 |
| NC_000006.11:g.132172398G>T , CM000668.1:g.132172398G>T | GRCh37 |
| NC_000006.10:g.132214091G>T | NCBI36 |
| NG_008206.1:g.48243G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.547G>T MANE Select | ENSP00000498074.1:p.Val183Leu | |
| ENST00000650147.1:c.225G>T | ||
| ENST00000650437.1:c.108+1152G>T | ||
| ENST00000360971.6:c.547G>T | ENSP00000354238.2:p.Val183Leu | |
| ENST00000486853.1:n.567G>T | ||
| ENST00000513998.5:c.547G>T | ENSP00000422424.1:p.Val183Leu | |
| NM_006208.2:c.547G>T | NP_006199.2:p.Val183Leu | |
| NM_006208.3:c.547G>T MANE Select | NP_006199.2:p.Val183Leu |